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Case Report Open Access

Small intestinal SMARCA4‑deficient undifferentiated carcinoma with intussusception: A case report

  • Authors:
    • Xiaoshan Cai
    • Shanshan Liu
    • Linqian Li
    • Yuming Zhang
    • Qin Guo
    • Ze Chen
    • Meihua Qu
    • Yubing Wang
    • Ben Yang
    • Xianwen Yue
  • View Affiliations / Copyright

    Affiliations: Department of Pathology, Weifang No. 2 People's Hospital, Weifang Respiratory Disease Hospital, Weifang, Shandong 261041, P.R. China, Department of Cardiac Critical Care and Rehabilitation, Weifang People's Hospital, Weifang, Shandong 261041, P.R. China, Department of Radiology, Weifang No. 2 People's Hospital, Weifang Respiratory Disease Hospital, Weifang, Shandong 261041, P.R. China, Translational Medical Center, Weifang No. 2 People's Hospital, Weifang Respiratory Disease Hospital, Weifang, Shandong 261041, P.R. China
    Copyright: © Cai et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 52
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    Published online on: November 26, 2025
       https://doi.org/10.3892/ol.2025.15405
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Abstract

Switch/sucrose non‑fermentable (SWI/SNF) related matrix associated actin‑dependent regulator of chromatin sub‑family A member 4‑deficient undifferentiated carcinoma (SMARCA4‑DUC) of the small intestine is a rare and highly aggressive subtype of gastrointestinal malignancy. The present study reported the case of SMARCA4‑DUC in a patient who presented with intestinal intussusception and multi‑organ metastasis to the lungs, liver, spleen and skin, which led to rapid progression and death in 43 days. The present case highlighted the unique histological and molecular features of SMARCA4‑DUC, characterized by the absence of SMARCA4 expression and undifferentiated cellular morphology. The present case report aimed to describe the clinical presentation, imaging findings, pathological features and treatment course, to further the current understanding of SMARCA4‑associated malignancies and improve the recognition of SMARCA4‑DUC among clinicians and pathologists. Next‑generation sequencing of the primary small intestinal tumor identified pathogenic mutations in PTEN, TP53, ataxia telangiectasia mutated, ephrin type‑A receptor 5 and EGFR p.F997L, suggesting a DNA‑repair‑deficient genomic background and providing potential targets for future precision therapy. Further research is warranted to determine the molecular mechanisms underlying SMARCA4‑DUC, for the development of targeted therapeutic strategies and to improve the understanding of the aggressiveness of SMARCA4‑DUC.
View Figures

Figure 1

Thoracic CT examination (plain and
enhanced) dated on day 1. (A) Lung window. A well-defined,
smooth-edged mass measuring 31 mm in diameter was observed in the
outer basal segment of the right lower lobe (red arrow). (B)
Mediastinal window (enhanced). The central region of the mass in
the outer basal segment of the right lower lobe revealed no
enhancement, while the peripheral rim exhibited ring-like
enhancement (yellow arrow). (C) Enlarged lymph node in the right
hilar region (station 11), with a maximum short-axis diameter of
~15 mm (white arrow).

Figure 2

Plain and enhanced abdominal CT
examination. (A) Multiple hypodense nodules in the liver, with the
largest nodule located in segment VIII, measuring 12 mm in diameter
with moderate enhancement (red arrow), on Day 1. (B) Increased and
enlarged liver metastases (indicated by the red arrows), novel
metastases in the spleen (indicated by the yellow arrows), on Day
18. (C) Transverse plane, (D) coronal plane and (E) sagittal plane
views demonstrated localized intussusception in the small
intestinal jejunum segment of the patient, with notable thickening
and edema of the bowel wall (white arrows), on Day 18.

Figure 3

Histopathological staining of lung
biopsy tissue. (A) Tumor cells in lung biopsy tissue were arranged
in solid sheets, with some cells exhibiting visible nucleoli
following H&E staining (scale bar, 100 µm). (B) Tumor cells
obtained from the lung biopsy tissue revealed negative expression
of SMARCA4 (Red arrows indicate SMARCA4-positive sites, blue arrows
indicate lymphoid regions, black arrows indicate tumor regions,
scale bar, 100 µm). (C) Partial positive expression of p40 in tumor
cells obtained from the lung biopsy tissue (Red arrows indicate
p40-positive sites, scale bar, 100 µm). (D) Positive expression of
CK7 in tumor cells obtained from the lung biopsy tissue (red arrows
indicate CK7-positive sites, scale bar, 100 µm). SMARCA4,
switch/sucrose non-fermentable (SWI/SNF) related matrix associated
actin-dependent regulator of chromatin sub-family A member 4; CK,
cytokeratin.

Figure 4

Histopathological staining of tumor
tissue in the small intestine. (A) Tumor cells in the small
intestine were arranged in solid nests, with large, lightly stained
nuclei and one or more visible small nucleoli (scale bar, 100 µm).
(B) Negative SMARCA4 expression in tumor cells of the small
intestine (red arrows indicate SMARCA4-positive sites, blue arrows
indicate lymphoid regions, black arrows indicate tumor regions,
scale bar, 200 µm). (C) Partial positive expression of p40 in tumor
cells of the small intestine (red arrows indicate p40-positive
sites, scale bar, 200 µm). (D) Positive expression of CK7 in tumor
cells of the small intestine (Red arrows indicate CK7-positive
sites, scale bar, 200 µm). (E) Positive expression of CK8 in tumor
cells of lung biopsy tissue (Red arrows indicate CK8-positive
sites, scale bar, 200 µm). (F) Positive expression of CD56 in tumor
cells of lung biopsy tissue (red arrows indicate CD56-positive
sites, scale bar, 200 µm). (G) Positive expression of GPC-3 in
tumor cells of lung biopsy tissue (red arrows indicate
GPC-3-positive sites, scale bar, 200 µm). SMARCA4, switch/sucrose
non-fermentable (SWI/SNF) related matrix associated actin-dependent
regulator of chromatin sub-family A member 4; CK, cytokeratin;
GPC-3, glypican-3.

Figure 5

Thoracic CT examination (plain) on
Day 31. (A) Lung window. Multiple nodules and masses in the left
upper lobe, indicative of novel lesions compared with the thoracic
CT examination (indicated by the red arrow), dated on Day 31. (B)
Lung window. Mass in the extra-basal segment of the lower lobe of
the right lung, enlarged on contrast with chest CT examination, on
Day 31 (red arrow). Subpleural ground-glass shadows in both lungs
were indicative of a novel lesion consistent with the CT pattern of
immune-associated pneumonia-non-specific interstitial pneumonitis
(yellow arrow). (C) Mediastinal window (plain). Nodule in the
dorsal segment of the lower lobe of the right lung, with a novel
lesion compared with that observed on chest CT examination carried
out on Day 31 (red arrow). Enlarged lymph nodes in region 11 of the
right hilar (white arrow).

Figure 6

Multiple cutaneous metastases. Images
of multiple cutaneous metastases in the (A) gingiva, (B) left face
and (C) anterior chest (white circles).

Figure 7

Timeline of major tests and
interventions received by the patient from admission to
discharge.
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Copy and paste a formatted citation
Spandidos Publications style
Cai X, Liu S, Li L, Zhang Y, Guo Q, Chen Z, Qu M, Wang Y, Yang B, Yue X, Yue X, et al: Small intestinal SMARCA4‑deficient undifferentiated carcinoma with intussusception: A case report. Oncol Lett 31: 52, 2026.
APA
Cai, X., Liu, S., Li, L., Zhang, Y., Guo, Q., Chen, Z. ... Yue, X. (2026). Small intestinal SMARCA4‑deficient undifferentiated carcinoma with intussusception: A case report. Oncology Letters, 31, 52. https://doi.org/10.3892/ol.2025.15405
MLA
Cai, X., Liu, S., Li, L., Zhang, Y., Guo, Q., Chen, Z., Qu, M., Wang, Y., Yang, B., Yue, X."Small intestinal SMARCA4‑deficient undifferentiated carcinoma with intussusception: A case report". Oncology Letters 31.2 (2026): 52.
Chicago
Cai, X., Liu, S., Li, L., Zhang, Y., Guo, Q., Chen, Z., Qu, M., Wang, Y., Yang, B., Yue, X."Small intestinal SMARCA4‑deficient undifferentiated carcinoma with intussusception: A case report". Oncology Letters 31, no. 2 (2026): 52. https://doi.org/10.3892/ol.2025.15405
Copy and paste a formatted citation
x
Spandidos Publications style
Cai X, Liu S, Li L, Zhang Y, Guo Q, Chen Z, Qu M, Wang Y, Yang B, Yue X, Yue X, et al: Small intestinal SMARCA4‑deficient undifferentiated carcinoma with intussusception: A case report. Oncol Lett 31: 52, 2026.
APA
Cai, X., Liu, S., Li, L., Zhang, Y., Guo, Q., Chen, Z. ... Yue, X. (2026). Small intestinal SMARCA4‑deficient undifferentiated carcinoma with intussusception: A case report. Oncology Letters, 31, 52. https://doi.org/10.3892/ol.2025.15405
MLA
Cai, X., Liu, S., Li, L., Zhang, Y., Guo, Q., Chen, Z., Qu, M., Wang, Y., Yang, B., Yue, X."Small intestinal SMARCA4‑deficient undifferentiated carcinoma with intussusception: A case report". Oncology Letters 31.2 (2026): 52.
Chicago
Cai, X., Liu, S., Li, L., Zhang, Y., Guo, Q., Chen, Z., Qu, M., Wang, Y., Yang, B., Yue, X."Small intestinal SMARCA4‑deficient undifferentiated carcinoma with intussusception: A case report". Oncology Letters 31, no. 2 (2026): 52. https://doi.org/10.3892/ol.2025.15405
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